CLN8

CLN8 transmembrane ER and ERGIC protein

Summary

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]

Known Variants409 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1405791108:1,705,382G/Adownstream gene variant—
rs65585308:1,706,207A/C——
rs10241202018:1,712,046G/T—benign
rs1134280068:1,712,049C/T—benign
rs10036574078:1,712,058G/A—likely benign
rs3738182708:1,712,164G/A—benign
rs1471828528:1,718,770C/G—likely benign
rs48758068:1,718,873G/C—benign
rs48759578:1,718,971C/T—benign
rs1141898108:1,719,094T/C—likely benign
rs15544487918:1,719,097G/C—uncertain significance
rs7960523618:1,719,099T/G—likely benign
rs15544487978:1,719,100T/A—likely benign
rs10575202728:1,719,101G/A—likely benign
rs14107888488:1,719,105A/T—likely benign
rs3747234188:1,719,108G/T—likely benign
rs10481529018:1,719,113G/A—benign
rs3745222618:1,719,175C/T—benign
rs7960523628:1,719,220A/T—likely benign
rs1437308028:1,719,221A/G—pathogenic
rs15544488748:1,719,222T/C—likely pathogenic
rs12696742338:1,719,225A/G—uncertain significance
rs7672188908:1,719,227C/T—uncertain significance
rs7739970328:1,719,229T/C—likely benign
rs1471815898:1,719,231C/T—conflicting classifications of pathogenicity
rs3687920818:1,719,232G/A—likely benign
rs3745977818:1,719,235C/G—uncertain significance
rs2009996408:1,719,236G/C—uncertain significance
rs5367386568:1,719,237A/G—uncertain significance
rs14641080808:1,719,238T/A—uncertain significance
rs7640994288:1,719,239G/A—uncertain significance
rs18012780498:1,719,240G/C—uncertain significance
rs7517629148:1,719,241G/A—likely benign
rs7810178858:1,719,243G/T—uncertain significance
rs11742405418:1,719,246C/T—uncertain significance
rs7502744558:1,719,247A/G—likely benign
rs14541750588:1,719,249C/G—pathogenic
rs21309900758:1,719,253G/A—likely benign
rs17750365778:1,719,255G/C—uncertain significance
rs15631071268:1,719,257A/G—uncertain significance
rs18012792158:1,719,259T/G—uncertain significance
rs9575514798:1,719,261T/C—uncertain significance
rs3868341298:1,719,266C/Amissense variantuncertain significance
rs8860436528:1,719,267T/G—uncertain significance
rs10575168678:1,719,267——pathogenic
rs21309901908:1,719,268G/C—likely benign
rs1486680818:1,719,270A/G—uncertain significance
rs1421040028:1,719,273A/T—uncertain significance
rs9423606188:1,719,276C/T—uncertain significance
rs12568142058:1,719,277A/G—likely benign
rs7496514528:1,719,279C/G—uncertain significance
rs7635831568:1,719,286G/C—likely benign
rs1048940648:1,719,290C/Gmissense variantpathogenic
rs7620791238:1,719,291G/T—likely pathogenic
rs7676984018:1,719,292C/T—likely benign
rs12769045118:1,719,295C/T—likely benign
rs13283848468:1,719,296A/T—uncertain significance
rs7558469778:1,719,297C/T—uncertain significance
rs9337537888:1,719,298G/A—likely benign
rs18012834868:1,719,300T/C—uncertain significance
rs7661838178:1,719,305G/T—uncertain significance
rs7537372138:1,719,307C/T—likely benign
rs1378528838:1,719,308G/Cmissense variantpathogenic
rs3868341398:1,719,308——pathogenic
rs3763824038:1,719,310T/C—likely benign
rs13664219888:1,719,312G/A—likely pathogenic
rs10309623498:1,719,313C/T—likely benign
rs7580682268:1,719,314T/G—uncertain significance
rs18012849798:1,719,317G/C—uncertain significance
rs13013881998:1,719,318T/C—uncertain significance
rs21309905858:1,719,322C/T—likely benign
rs21309906018:1,719,325C/G—pathogenic
rs15544489788:1,719,326T/A—uncertain significance
rs7466774188:1,719,328G/C—uncertain significance
rs7702404458:1,719,329G/A—uncertain significance
rs7534303888:1,719,331C/T—likely benign
rs3701995088:1,719,332G/A—uncertain significance
rs15851375458:1,719,334C/G—likely benign
rs2016706368:1,719,337T/G—uncertain significance
rs18012866458:1,719,343C/T—likely benign
rs1921962748:1,719,346C/A—pathogenic
rs5418402438:1,719,347C/T—uncertain significance
rs21309907478:1,719,350C/T—pathogenic
rs7661321978:1,719,355G/A—likely benign
rs14183498898:1,719,357C/A—uncertain significance
rs7651586248:1,719,360C/T—uncertain significance
rs21309908228:1,719,364C/A—likely benign
rs24864384948:1,719,365C/T—likely benign
rs5557575318:1,719,367G/A—likely benign
rs7577936608:1,719,369A/G—uncertain significance
rs7774532978:1,719,371G/A—conflicting classifications of pathogenicity
rs24864385738:1,719,373C/G—likely benign
rs7805510318:1,719,379C/A—pathogenic
rs7690696438:1,719,380C/T—uncertain significance
rs3722689778:1,719,381G/A—uncertain significance
rs15851376738:1,719,383T/G—uncertain significance
rs7960695568:1,719,394C/T—likely benign
rs7960523648:1,719,396G/C—uncertain significance
rs21309909948:1,719,400G/A—likely benign
rs24864389578:1,719,402A/C—uncertain significance

Showing 100 of 409 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.